U.S. flag

An official website of the United States government

NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001753661.3

Allele description [Variation Report for NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)]

NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del)
HGVS:
  • NC_000022.11:g.28734640_28734672del
  • NG_008150.2:g.12197_12229del
  • NM_001005735.2:c.52_84del
  • NM_001257387.2:c.-726_-694del
  • NM_001349956.2:c.52_84del
  • NM_007194.4:c.52_84delMANE SELECT
  • NM_145862.2:c.52_84del
  • NP_001005735.1:p.Cys18_Ser28del
  • NP_001336885.1:p.Cys18_Ser28del
  • NP_009125.1:p.Cys18_Ser28del
  • NP_665861.1:p.Cys18_Ser28del
  • LRG_302t1:c.52_84del
  • LRG_302:g.12197_12229del
  • LRG_302p1:p.Cys18_Ser28del
  • NC_000022.10:g.29130626_29130658del
  • NC_000022.10:g.29130628_29130660del
  • NG_008150.1:g.12165_12197del
  • NM_007194.3:c.52_84del
  • NM_007194.3:c.52_84del33
Links:
dbSNP: rs876658857
NCBI 1000 Genomes Browser:
rs876658857
Molecular consequence:
  • NM_001257387.2:c.-726_-694del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005735.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001349956.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007194.4:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_145862.2:c.52_84del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002006284GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 12, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002006284.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); In-frame deletion of 11 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024